Jia Y, Zhang XW, Wu YS, Wang QY, Yang SL. Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature. World J Clin Cases 2022; 10(35): 12996-13005 [PMID: 36569010 DOI: 10.12998/wjcc.v10.i35.12996]
Corresponding Author of This Article
Shu-Li Yang, MD, Chief Doctor, Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, No. 128 Ziqiang Street, Changchun 130000, Jilin Province, China. yangsl@jlu.edu.cn
Research Domain of This Article
Obstetrics & Gynecology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Dec 16, 2022; 10(35): 12996-13005 Published online Dec 16, 2022. doi: 10.12998/wjcc.v10.i35.12996
Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature
Yan Jia, Xi-Wen Zhang, Yi-Shi Wu, Qing-Yu Wang, Shu-Li Yang
Yan Jia, Xi-Wen Zhang, Yi-Shi Wu, Shu-Li Yang, Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China
Qing-Yu Wang, Department of Orthopedic Medical Center, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China
Author contributions: Jia Y and Zhang XW participated in manuscript writing, editing, and in the literature search; Zhang XW, Wu YS and Wang QY performed data collection under the supervision of Yang SL; the manuscript was drafted by Jia Y, reviewed by all authors, and revised with contributions from all authors under the supervision and final revision of Yang SL; Yang SL was responsible for the integrity of the work from inception to the finished article; all authors read and approved the final manuscript and contributed to the review and interpretation of data.
Supported byNatural Science Fund of Jilin Province, No. YDZJ202201ZYTS278.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shu-Li Yang, MD, Chief Doctor, Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, No. 128 Ziqiang Street, Changchun 130000, Jilin Province, China. yangsl@jlu.edu.cn
Received: July 18, 2022 Peer-review started: July 18, 2022 First decision: October 13, 2022 Revised: October 24, 2022 Accepted: November 28, 2022 Article in press: November 28, 2022 Published online: December 16, 2022
Abstract
BACKGROUND
The purpose of this study was to report the rare case of a pregnant woman with congenital dysfibrinogenemia (CD) misdiagnosed as acute fatty liver. She was treated according to the principles of acute fatty liver but achieved good clinical results.
CASE SUMMARY
A 30-year-old woman presented with 39 (6/7) wk of menopause and 6 h of irregular abdominal pain and attended our hospital. Emergency surgery was performed due to fetal distress. Postoperative management followed the treatment principle of acute fatty liver. DNA sequencing was carried out on the pregnant woman and her pedigree. Coagulation values of the patient on admission were prothrombin time 33.7 s, activated partial thromboplastin time 60.4 s, thrombin time 45.2 s, and fibrinogen 0.60 g/L. DNA sequencing results showed that the woman carried a pathogenic heterozygous variation of the fibrinogen alpha chain gene (FGA), which is closely related to hereditary fibrinogen abnormality, and the mutation site was located in p.R350H. After a follow-up period of 12 mo, the mother and her newborn had a good prognosis without bleeding or thrombosis.
CONCLUSION
Pregnant women with CD may have atypical symptoms, which can easily lead to misdiagnosis. In addition, treatment can be attempted according to the principles of acute fatty liver management. This rare pregnant patient with CD was caused by a novel FGA (p.R350H) gene mutation.
Core Tip: Pregnant women with congenital dysfibrinogenemia (CD) may have atypical symptoms, which can easily lead to misdiagnosis. The purpose of this study was to report the rare case of a pregnant woman with CD who was misdiagnosed with acute fatty liver. She was treated according to the principles of acute fatty liver but achieved good clinical results. DNA sequencing was carried out on the pregnant woman and her pedigree. The DNA sequencing results showed that the woman carried a pathogenic heterozygous variation of the fibrinogen alpha chain gene closely related to hereditary fibrinogen abnormality, and the mutation site was located in p.R350H.
